Therapies help pachygyria sufferers

July 19, 2011

By Emily Baer

Pachygyria is a neuronal migration disorder that results in too few gyri, or folds in the brain, according to Seattle Children’s pediatric neurologist Alexander Paciorkowski.

Isolated pachygyria means that only one part of the brain is affected; extensive pachygyria signifies that most of the brain is absent of gyri. The condition is closely related to lissencephaly, a term used to describe the condition of a brain that is completely smooth.

Pachygyria is classified as a rare condition. Neurologists and geneticists consider rare conditions to arise in less than 1 in 2,000 people. Though in most cases it is genetic, sometimes pachygyria can be caused by infection early in a pregnancy.

During fetal development, neurons must migrate from their place of origin deep inside the brain to their proper neural circuits near the brain’s surface. Neuronal migration, which can occur as early as the second month of gestation, is controlled by chemical signals. Neurons that settle outside of their designated locations cause the brain to develop structural abnormalities.

“A neuronal migration disorder is a disorder where the neurons do not migrate as they should,” Paciorkowski said. “Because the neurons are not showing up on the surface of the brain, the surface of the brain is not as developed as it should be and has fewer gyri. This is a shared finding of all neuronal migration disorders.”

The extent to which a person with pachygyria is affected depends on how absent the brain is from convulsions. Paciorkowski said that in most cases, people with pachygyria have moderate to severe developmental delay and epilepsy.

“In other cases, the person will be less impaired or handicapped. It’s very hard to predict,” he said. “People end up crawling and walking later than expected, and as they get older may require a more significant amount of repair.”

While people with pachygyria do not have a predetermined average life expectancy due to the variability of the condition’s extent, Paciorkowski said that the likelihood of a patient with the condition living a long life is getting better.

“I think what’s happened over the past couple decades is general medical care has gotten a lot better,” he said. “Many children who have developmental conditions are surviving much later.”

As for cures, none exist to fix the absence of gyri, but therapy can help those with pachygyria learn to walk and communicate.

Comments

My grandbaby has this I didn’t know it was so rare he’s trying to walk now n he’s almost 3 I’m a young grandmother so if someone could tell da best therapy. That would b helpful

Shebra on
September 8th, 2011 4:16 pm

My son will be 2 on September 21. He also suffers from this rare condition. His condition of pachygyria is diffused( all over) on the brain. He is taking speech, physical, and occupational therapy. He also wears eyeglasses as a result of Esotrpia. I see he is making some improvements but he’s still unable to talk, walk, and crawl. If anyone knows or have some other valuable advice please please don’t hesitate to leave the info on here.

Shebra on
September 8th, 2011 4:20 pm

@ Lisa the best therapy is to attend physical, speech, and occupational. Also it helps to have your grandchild around “able bodied” kids. Pray and pray hard and loud!!!

vikas gandhi on
October 5th, 2012 12:16 pm

hi my son is about to b 3. He is undergoing the therapy to walk. He just speeks few words. But now a days getting aggresive too pls pls suggest me wqht to do.he is capable to sit but i cannt make him wit independent on chair or stool.why is that so?pls advice if could.

Diane on
January 7th, 2013 11:51 am

With my granddaughter, Hippotherapy was wonderful and we used in conjunction with PT. Therapists say that the movement of the horse is very therapeutic. And just being around the therapy horses makes children very happy. Ask your PT or go online for info in your area.

Tiffany on
January 25th, 2013 2:23 pm

My baby girl Violet just turned 1 on January 7th/2013. She was diagnosed with Pachygria on January 23/2013. So this is all very new to us. It was not the diagnoses we expected at all. She can roll over, and if we put her in a sitting position she can sit for 30 minutes or more. She can pass objects back and forth. She holds her own bottle. She reaches for me. She can eat crackers by herself. She says mama, dada, baba. She seems almost normal except for her Motor delay. She has not had any seizures. She has been going to PT since she was 8 months. She shows improvement every month. Her brain scan shows she is at least a moderate case…half her brain is affected. From the little information that is out there she seems to be doing very good. I hope she never meets her limit. We are strongly considering putting her on Seizure medicine just as a safety net.

S Fuller on
February 10th, 2013 2:05 pm

my grandson who is 10 has been diagonised when he was about 3 or 4. He has seizures and is on daytrana to keep him focused. that’s what I am told. but it clearly states in the side effects of daytrana that is a child has seizures while on this medication to stop the patch. does it seem normal for a doctor to prescribe this medication for a child who already has seizures??

Anonymous on
May 29th, 2013 9:01 am

My son is 11, he started having seizures recently and we now know he has this diagosis. He is a normal boy who has to work extra hard at things that come easy to most children. He was a late crawler, walker and his speech was delayed but he has overcome all of these obstacles and is now a straight A student finishing 5th grade. I tell you all this to be hopeful and proactive with your children. I started him in occupational therapy and myofacial therapy and speech therapy all at age 2. I also had him tested for food allergies, diet is a big part of this as well. The seizures are mild and I believe they were triggered by puberty. We r starting a Ketogenic diet which is supposed to cure the seizures.

S. Woods on
June 2nd, 2013 1:57 am

My daughter is now 6yrs old and has been having grand mal seizures now since she was 2, (only medicated for them now) This year after many tests, she was diagnosed with pachygyria. My husband and I knew she was behind in development but nothing could have prepared us for this news. I am asking for advise from others on how to help her. Her speech is delayed (but a good voc), her physical development is delayed she can walk but cannot run very well, ride a bike, kick a ball, and her thinking is not the same as other children her own age. I have been told that she thinks differently to others – so please help if you have any information it will be greatly appreciated.

christina on
February 5th, 2014 9:38 pm

my son is now 3 years old and was diagnosed with this condition last year at first they was not able to find out what exactly it was because all they seen at first was a cyst on his brain after closer observation they found out he had this.. he started walking at 18 months and has been able to talk sit up and everything else mostly on time we have not had any problems with seizures thank goodness but he has been in Occupational therapy and Behavioral management because he does not know boundaries just yet but he is still young hopefully he will grow out of this phase

Julia on
August 30th, 2014 5:30 pm

Thank you all for sharing your stories. My granddaughter is 1 week old and has been diagnosed with Pachygyria. I have been praying and searching for answers to find out what Pachygyria is and how it will affect her future. It’s reassuring to know that as long we make sure she is in therapy and we work together as a family we can be sure that she has as much of a normal life as possible.

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